The main aim of the MOBIGEN project is to create a new scheme for the production and presentation of genetic information in the form of innovative mobile applications for consumer genetics. The human genome is an analytically and computationally extremely demanding source of information. Therefore, it is necessary to develop new bioinformatic methods that will lower the costs of a single genetic test and enable the personalization of products based on the individual genetic predisposition of the customer. As a part of research works, server solutions will be created for fast and repeated processing of genetic data. IT tools will be developed that will automate a set of activities previously performed manually (e.g. search for gene variants related to a polygenic trait). The mobile applications created in the project will be tested by users to determine the priorities in the presentation of multi-gene results. During the pre-implementation works, one of the mobile applications created as a software to predict a genetic risk of cardiovascular diseases is planned to be certified as a medical device. The MOBIGEN project concerns product innovation on a global scale (RPMP.01.02.01-12-0049/18).
The project is aimed at developing and validating the software system for pharmacogenomics. The integrated research and development efforts will be focused on DNA sequence processing methods dedicated to highly variable regions of the human genome, associated with drug safety and efficacy (pharmacogenes). Combination of high-throughput DNA sequencing, long-range genome reads, and advanced data-analysis pipelines will be used for precise and rapid identification of the genotypes of pharmacogenes. The advanced machine learning methods will be used to increase sensitivity and specificity of genotyping, and further to improve prediction of the individual drug-response profile. The scalable bioinformatic modules will be integrated into comprehensive system capable of conducting the analyses of the human genome regions, containing drug related-genes, characterized by high structural and sequence variations. The system will generate a set of diagnostics tools (tests) for the most commonly used drugs. The R&D phase of the project will be followed by the implementation of the system into the clinical conditions. Validated PGx Plus system may become one of the first pharmacogenetic solutions working on the whole-genome scale. The direct results of the project will respond to a great market demand for a personalized medical products (POIR.01.02.00-00-0089/18).
The aim is to develop an automatic genome interpretation software with the capability to generate clinical reports for multiple diagnostic traits. The developed engine will search through all the available human genome databases automatically and the gathered information will then serve as a base for producing clinical report generators – GeneTraps. The generated reports will be focused on a clinical trait and can be further merged into groups of disease-related panels. These can be efficiently used by specialists in a particular medical field to obtain the required information with no need for a profound understanding of the whole-genome analysis. The emphasis of our work is placed on supporting the expert’s decision-making skills by providing high-quality genome interpretation reports from next-generation sequencing data. Hence, introducing GeneTraps to clinics will have a great impact on the diagnosis process not only by reducing the time needed but also by providing current and reliable information (POIR.01.01.01-00-0213/15).
The aim of the project is to introduce innovative human genome analysis services developed by Intelliseq to the US market. The subject of implementation is modular bioinformatics technology dedicated to the processing and interpretation of genomic sequence reading results.
Promotional activities will be focused on entities from the biomedical industry, diagnostic networks, pharmaceutical companies and genetic data distribution platforms. The project aims to establish permanent cooperation in the field of computational genomics with a large entity operating on the US market.
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